Incidental Mutation 'R9230:Cd180'
| ID |
700191 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd180
|
| Ensembl Gene |
ENSMUSG00000021624 |
| Gene Name |
CD180 antigen |
| Synonyms |
Ly78, RP105 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9230 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
102830055-102843139 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
TA to TAA
at 102841514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022124]
[ENSMUST00000167144]
[ENSMUST00000170878]
[ENSMUST00000171267]
[ENSMUST00000172138]
|
| AlphaFold |
Q62192 |
| PDB Structure |
Crystal structure of mouse RP105/MD-1 complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000022124
|
| SMART Domains |
Protein: ENSMUSP00000022124
Gene: ENSMUSG00000021624
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
LRR
|
76 |
99 |
1.07e0 |
SMART |
|
LRR
|
193 |
221 |
1.76e2 |
SMART |
|
LRR
|
297 |
320 |
1.66e1 |
SMART |
|
Pfam:LRR_8
|
321 |
382 |
4.2e-13 |
PFAM |
|
LRR
|
395 |
418 |
3e1 |
SMART |
|
LRR
|
444 |
467 |
3.09e1 |
SMART |
|
LRR
|
495 |
518 |
4.97e0 |
SMART |
|
LRR
|
519 |
542 |
2.4e1 |
SMART |
|
low complexity region
|
555 |
567 |
N/A |
INTRINSIC |
|
LRRCT
|
577 |
626 |
5.11e-8 |
SMART |
|
transmembrane domain
|
628 |
650 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167144
|
| SMART Domains |
Protein: ENSMUSP00000133015
Gene: ENSMUSG00000021624
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170878
|
| SMART Domains |
Protein: ENSMUSP00000127880
Gene: ENSMUSG00000021624
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PDB:3T6Q|B
|
21 |
86 |
3e-38 |
PDB |
|
SCOP:d1m0za_
|
35 |
84 |
4e-4 |
SMART |
|
Blast:LRR
|
51 |
75 |
1e-5 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171267
|
| SMART Domains |
Protein: ENSMUSP00000129096
Gene: ENSMUSG00000021624
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PDB:3T6Q|B
|
21 |
86 |
2e-38 |
PDB |
|
SCOP:d1m0za_
|
35 |
84 |
9e-4 |
SMART |
|
Blast:LRR
|
51 |
75 |
7e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172138
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation showed impaired proliferative and humoral immune responses of B cells to lipopolysaccharides. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
A |
T |
10: 77,157,626 (GRCm39) |
F274I |
probably damaging |
Het |
| Aen |
T |
A |
7: 78,552,107 (GRCm39) |
D22E |
probably damaging |
Het |
| Appl1 |
T |
C |
14: 26,645,692 (GRCm39) |
E706G |
unknown |
Het |
| Arhgap21 |
T |
C |
2: 20,860,469 (GRCm39) |
T1313A |
possibly damaging |
Het |
| Armc2 |
T |
C |
10: 41,823,935 (GRCm39) |
Y511C |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,989,459 (GRCm39) |
T2098A |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,599,856 (GRCm39) |
Y1659C |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,516,053 (GRCm39) |
I563T |
probably benign |
Het |
| Cblif |
G |
A |
19: 11,737,748 (GRCm39) |
W386* |
probably null |
Het |
| Cd55b |
A |
T |
1: 130,350,619 (GRCm39) |
L26* |
probably null |
Het |
| Cdc42bpa |
A |
G |
1: 179,933,638 (GRCm39) |
N759S |
probably benign |
Het |
| Chrm3 |
C |
A |
13: 9,928,479 (GRCm39) |
V186L |
probably benign |
Het |
| Clrn2 |
A |
G |
5: 45,621,283 (GRCm39) |
T226A |
probably damaging |
Het |
| Col3a1 |
C |
T |
1: 45,383,138 (GRCm39) |
P1071S |
unknown |
Het |
| Csgalnact2 |
A |
G |
6: 118,103,212 (GRCm39) |
L250P |
probably damaging |
Het |
| Cyp4a31 |
G |
T |
4: 115,428,281 (GRCm39) |
E326* |
probably null |
Het |
| Def8 |
A |
G |
8: 124,186,317 (GRCm39) |
E352G |
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,639,642 (GRCm39) |
D60G |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,807,223 (GRCm39) |
L1368P |
probably damaging |
Het |
| Dytn |
A |
T |
1: 63,686,611 (GRCm39) |
V353D |
probably benign |
Het |
| Egfem1 |
G |
A |
3: 29,411,317 (GRCm39) |
E155K |
probably benign |
Het |
| Eif3m |
A |
T |
2: 104,831,705 (GRCm39) |
M285K |
probably damaging |
Het |
| Fam135b |
T |
C |
15: 71,335,856 (GRCm39) |
K446R |
probably benign |
Het |
| Fbxo22 |
T |
C |
9: 55,116,442 (GRCm39) |
L36P |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,612,844 (GRCm39) |
S1025P |
possibly damaging |
Het |
| Gja8 |
C |
T |
3: 96,826,664 (GRCm39) |
V333M |
possibly damaging |
Het |
| Glis1 |
T |
C |
4: 107,425,327 (GRCm39) |
S313P |
probably benign |
Het |
| Grid2ip |
G |
A |
5: 143,359,194 (GRCm39) |
R270Q |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hspa4 |
T |
C |
11: 53,171,466 (GRCm39) |
E246G |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,585,702 (GRCm39) |
|
probably null |
Het |
| Ifit1 |
A |
G |
19: 34,625,236 (GRCm39) |
E124G |
possibly damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,752 (GRCm39) |
D95G |
probably benign |
Het |
| Igsf10 |
G |
A |
3: 59,243,843 (GRCm39) |
R164W |
probably damaging |
Het |
| Ilkap |
A |
C |
1: 91,314,937 (GRCm39) |
I142S |
probably benign |
Het |
| Insyn2a |
A |
T |
7: 134,520,439 (GRCm39) |
Y30* |
probably null |
Het |
| Kctd14 |
C |
G |
7: 97,104,104 (GRCm39) |
P53R |
unknown |
Het |
| Kndc1 |
A |
T |
7: 139,500,600 (GRCm39) |
D655V |
probably damaging |
Het |
| Krt1c |
A |
C |
15: 101,725,948 (GRCm39) |
S197A |
probably benign |
Het |
| Lpin1 |
A |
T |
12: 16,588,483 (GRCm39) |
S902R |
unknown |
Het |
| Mapk13 |
T |
C |
17: 28,994,532 (GRCm39) |
I141T |
probably damaging |
Het |
| Micall2 |
A |
G |
5: 139,701,827 (GRCm39) |
V472A |
unknown |
Het |
| Mmp15 |
T |
C |
8: 96,092,959 (GRCm39) |
F113L |
probably benign |
Het |
| Msantd5f6 |
C |
T |
4: 73,319,685 (GRCm39) |
A264T |
probably benign |
Het |
| Msh2 |
T |
G |
17: 88,026,717 (GRCm39) |
S738A |
probably benign |
Het |
| Muc20 |
T |
G |
16: 32,613,584 (GRCm39) |
T598P |
probably damaging |
Het |
| Myo1f |
T |
C |
17: 33,795,424 (GRCm39) |
V53A |
probably damaging |
Het |
| Ncf1 |
A |
T |
5: 134,250,718 (GRCm39) |
N367K |
probably benign |
Het |
| Nme8 |
T |
G |
13: 19,874,384 (GRCm39) |
I139L |
probably benign |
Het |
| Odam |
T |
C |
5: 88,034,457 (GRCm39) |
F46L |
probably benign |
Het |
| Or51a25 |
C |
A |
7: 102,372,795 (GRCm39) |
V301F |
possibly damaging |
Het |
| Or7a42 |
G |
A |
10: 78,791,929 (GRCm39) |
D297N |
possibly damaging |
Het |
| Pcare |
A |
G |
17: 72,057,217 (GRCm39) |
L820P |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,099,788 (GRCm39) |
I1945T |
|
Het |
| Rbmyf9 |
T |
G |
Y: 3,774,819 (GRCm39) |
D5E |
probably damaging |
Het |
| Rell1 |
T |
C |
5: 64,097,105 (GRCm39) |
|
probably benign |
Het |
| Ripk3 |
A |
G |
14: 56,023,303 (GRCm39) |
F134S |
probably benign |
Het |
| Sclt1 |
A |
T |
3: 41,665,631 (GRCm39) |
W146R |
probably benign |
Het |
| Slc18a2 |
T |
C |
19: 59,261,647 (GRCm39) |
M178T |
probably benign |
Het |
| Slc24a5 |
G |
T |
2: 124,922,568 (GRCm39) |
G110V |
probably damaging |
Het |
| Slc38a10 |
T |
A |
11: 119,996,781 (GRCm39) |
D772V |
probably benign |
Het |
| Slc9c1 |
T |
C |
16: 45,398,275 (GRCm39) |
L680P |
possibly damaging |
Het |
| Tll2 |
T |
A |
19: 41,093,436 (GRCm39) |
Y477F |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tnrc18 |
G |
T |
5: 142,773,392 (GRCm39) |
A479D |
|
Het |
| Topaz1 |
T |
A |
9: 122,596,097 (GRCm39) |
M956K |
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,444,237 (GRCm39) |
D465V |
possibly damaging |
Het |
| Xndc1 |
T |
A |
7: 101,722,476 (GRCm39) |
V47E |
probably damaging |
Het |
|
| Other mutations in Cd180 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00778:Cd180
|
APN |
13 |
102,841,917 (GRCm39) |
missense |
probably benign |
|
|
IGL00949:Cd180
|
APN |
13 |
102,830,268 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01864:Cd180
|
APN |
13 |
102,842,541 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01901:Cd180
|
APN |
13 |
102,842,936 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01934:Cd180
|
APN |
13 |
102,839,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01998:Cd180
|
APN |
13 |
102,841,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02336:Cd180
|
APN |
13 |
102,841,821 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03031:Cd180
|
APN |
13 |
102,841,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03139:Cd180
|
APN |
13 |
102,842,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Volte_face
|
UTSW |
13 |
102,841,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
H8562:Cd180
|
UTSW |
13 |
102,841,926 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0004:Cd180
|
UTSW |
13 |
102,839,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0393:Cd180
|
UTSW |
13 |
102,842,408 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0565:Cd180
|
UTSW |
13 |
102,839,382 (GRCm39) |
intron |
probably benign |
|
|
R1080:Cd180
|
UTSW |
13 |
102,842,728 (GRCm39) |
nonsense |
probably null |
|
|
R1223:Cd180
|
UTSW |
13 |
102,842,730 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1669:Cd180
|
UTSW |
13 |
102,841,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1772:Cd180
|
UTSW |
13 |
102,842,750 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1784:Cd180
|
UTSW |
13 |
102,842,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Cd180
|
UTSW |
13 |
102,842,517 (GRCm39) |
missense |
probably benign |
|
|
R2252:Cd180
|
UTSW |
13 |
102,842,906 (GRCm39) |
nonsense |
probably null |
|
|
R2385:Cd180
|
UTSW |
13 |
102,841,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4653:Cd180
|
UTSW |
13 |
102,841,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4695:Cd180
|
UTSW |
13 |
102,842,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4790:Cd180
|
UTSW |
13 |
102,839,330 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4934:Cd180
|
UTSW |
13 |
102,875,672 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5052:Cd180
|
UTSW |
13 |
102,841,403 (GRCm39) |
missense |
probably benign |
|
|
R5154:Cd180
|
UTSW |
13 |
102,842,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5469:Cd180
|
UTSW |
13 |
102,841,342 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5493:Cd180
|
UTSW |
13 |
102,842,649 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5615:Cd180
|
UTSW |
13 |
102,842,711 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5905:Cd180
|
UTSW |
13 |
102,842,541 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6282:Cd180
|
UTSW |
13 |
102,830,265 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6433:Cd180
|
UTSW |
13 |
102,842,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6456:Cd180
|
UTSW |
13 |
102,839,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6784:Cd180
|
UTSW |
13 |
102,839,213 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6815:Cd180
|
UTSW |
13 |
102,841,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Cd180
|
UTSW |
13 |
102,839,239 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6941:Cd180
|
UTSW |
13 |
102,842,699 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7048:Cd180
|
UTSW |
13 |
102,841,431 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7338:Cd180
|
UTSW |
13 |
102,842,936 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7466:Cd180
|
UTSW |
13 |
102,841,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7647:Cd180
|
UTSW |
13 |
102,842,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8179:Cd180
|
UTSW |
13 |
102,842,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8252:Cd180
|
UTSW |
13 |
102,842,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8300:Cd180
|
UTSW |
13 |
102,841,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8460:Cd180
|
UTSW |
13 |
102,839,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9122:Cd180
|
UTSW |
13 |
102,841,517 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9227:Cd180
|
UTSW |
13 |
102,841,514 (GRCm39) |
nonsense |
probably null |
|
|
R9229:Cd180
|
UTSW |
13 |
102,841,514 (GRCm39) |
nonsense |
probably null |
|
|
R9399:Cd180
|
UTSW |
13 |
102,842,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9569:Cd180
|
UTSW |
13 |
102,842,486 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Cd180
|
UTSW |
13 |
102,842,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cd180
|
UTSW |
13 |
102,842,540 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCATTGAAGCATCTGTTCTTC -3'
(R):5'- ATGTCCTCAAATGTCCCCAGC -3'
Sequencing Primer
(F):5'- AGCATCTGTTCTTCATCCAAACAGG -3'
(R):5'- GGATCGTAGAGTTCTTCAAACCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation